| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117660798_117670251delinsTAACT | CA2580076337 | CFTR | c.90-3890_368+4687delinsTAACT | ClinVar |
| 7 | g.117664610_117666141del | CA264802 | CFTR | c.*173-78_*451+577del c.*3678-78_*3956+577del c.3781-78_4059+577del c.*177-78_*455+577del c.*617-78_*895+577del c.*173-78_*452-507del c.3964-78_4242+577del c.*625-78_*903+577del c.*2339-78_*2617+577del c.3958-78_4236+577del c.*3788-78_*4066+577del c.3538-78_3816+577del n.2132-78_2987del c.828-78_1106+577del c.1751-78_2029+577del c.546-78_825-507del c.1414-78_1692+577del c.3874-78_4152+577del c.90-78_368+577del c.4054-78_4332+577del c.4054-78_4333-507del c.3721-78_3999+577del | ClinVar |
| 7 | g.117664686_117665563delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT | CA1737421696 | CFTR | c.*173-2_*450delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.*3678-2_*3955delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.3781-2_4058delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.*177-2_*454delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.*617-2_*894delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.3964-2_4241delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.*625-2_*902delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.*2339-2_*2616delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.3958-2_4235delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.*3788-2_*4065delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.3538-2_3815delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT n.2132-2_2409delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.828-2_1105delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.1751-2_2028delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.546-2_823delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.1414-2_1691delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.3874-2_4151delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.90-2_367delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.4054-2_4331delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.3721-2_3998delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT | |
| 7 | g.117664688_117667108del | CA913189944 | CFTR | c.*173_*652del c.*3678_*4157del c.3781_4260del c.*177_*656del c.*617_*896-494del c.*173_*912del c.3964_*149del c.*625_*904-494del c.*2339_*2818del c.3958_4437del c.*3788_*4267del c.3538_4017del n.2132_3954del c.828_1307del c.1751_2030-494del c.546_1285del c.3964_4443del c.1414_1893del c.90_368+1544del c.4054_4533del c.3721_4200del | ClinVar |
| 7 | g.117664690_117665566del | CA913189945 | CFTR | c.*175_*451+2del c.*3680_*3956+2del c.3783_4059+2del c.*179_*455+2del c.*619_*895+2del c.3966_4242+2del c.*627_*903+2del c.*2341_*2617+2del c.3960_4236+2del c.*3790_*4066+2del c.3540_3816+2del n.2134_2412del c.830_1106+2del c.1753_2029+2del c.548_824+2del c.1416_1692+2del c.3876_4152+2del c.92_368+2del c.4056_4332+2del c.3723_3999+2del | ClinVar dbSNP |
| 7 | g.117664800_117664802delinsCTG | CA1737422071 | CFTR | c.*285_*287delinsCTG (n.*285_*287delinsCTG) c.*3790_*3792delinsCTG (n.*3790_*3792delinsCTG) c.3893_3895delinsCTG (p.Ser1298=) c.*289_*291delinsCTG (n.*289_*291delinsCTG) c.*729_*731delinsCTG (n.*729_*731delinsCTG) c.4076_4078delinsCTG (p.Ser1359=) c.*737_*739delinsCTG (n.*737_*739delinsCTG) c.*2451_*2453delinsCTG (n.*2451_*2453delinsCTG) c.4070_4072delinsCTG (p.Ser1357=) c.*3900_*3902delinsCTG (n.*3900_*3902delinsCTG) c.3650_3652delinsCTG (p.Ser1217=) n.2244_2246delinsCTG c.940_942delinsCTG (n.940_942delinsCTG) c.1863_1865delinsCTG (n.1863_1865delinsCTG) c.658_660delinsCTG c.1526_1528delinsCTG c.3986_3988delinsCTG (p.Ser1329=) c.202_204delinsCTG c.4166_4168delinsCTG (p.Ser1389=) c.3833_3835delinsCTG (p.Ser1278=) | |
| 7 | g.117664800_117664804delinsCTGTT | CA1737422067 | CFTR | c.*285_*289delinsCTGTT (n.*285_*289delinsCTGTT) c.*3790_*3794delinsCTGTT (n.*3790_*3794delinsCTGTT) c.3893_3897delinsCTGTT (p.Ser1298=) c.*289_*293delinsCTGTT (n.*289_*293delinsCTGTT) c.*729_*733delinsCTGTT (n.*729_*733delinsCTGTT) c.4076_4080delinsCTGTT (p.Ser1359=) c.*737_*741delinsCTGTT (n.*737_*741delinsCTGTT) c.*2451_*2455delinsCTGTT (n.*2451_*2455delinsCTGTT) c.4070_4074delinsCTGTT (p.Ser1357=) c.*3900_*3904delinsCTGTT (n.*3900_*3904delinsCTGTT) c.3650_3654delinsCTGTT (p.Ser1217=) n.2244_2248delinsCTGTT c.940_944delinsCTGTT (n.940_944delinsCTGTT) c.1863_1867delinsCTGTT (n.1863_1867delinsCTGTT) c.658_662delinsCTGTT c.1526_1530delinsCTGTT c.3986_3990delinsCTGTT (p.Ser1329=) c.202_206delinsCTGTT c.4166_4170delinsCTGTT (p.Ser1389=) c.3833_3837delinsCTGTT (p.Ser1278=) | |
| 7 | g.117664801T>A | CA457230410 | CFTR | c.*286T>A (n.*286T>A) c.*3791T>A (n.*3791T>A) c.3894T>A (p.Ser1298=) c.*290T>A (n.*290T>A) c.*730T>A (n.*730T>A) c.4077T>A (p.Ser1359=) c.*738T>A (n.*738T>A) c.*2452T>A (n.*2452T>A) c.4071T>A (p.Ser1357=) c.*3901T>A (n.*3901T>A) c.3651T>A (p.Ser1217=) n.2245T>A c.941T>A (n.941T>A) c.1864T>A (n.1864T>A) c.659T>A c.1527T>A c.3987T>A (p.Ser1329=) c.203T>A c.4167T>A (p.Ser1389=) c.3834T>A (p.Ser1278=) | |
| 7 | g.117664801T>C | CA457230406 | CFTR | c.*286T>C (n.*286T>C) c.*3791T>C (n.*3791T>C) c.3894T>C (p.Ser1298=) c.*290T>C (n.*290T>C) c.*730T>C (n.*730T>C) c.4077T>C (p.Ser1359=) c.*738T>C (n.*738T>C) c.*2452T>C (n.*2452T>C) c.4071T>C (p.Ser1357=) c.*3901T>C (n.*3901T>C) c.3651T>C (p.Ser1217=) n.2245T>C c.941T>C (n.941T>C) c.1864T>C (n.1864T>C) c.659T>C c.1527T>C c.3987T>C (p.Ser1329=) c.203T>C c.4167T>C (p.Ser1389=) c.3834T>C (p.Ser1278=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117664801T>G | CA457230394 | CFTR | c.*286T>G (n.*286T>G) c.*3791T>G (n.*3791T>G) c.3894T>G (p.Ser1298=) c.*290T>G (n.*290T>G) c.*730T>G (n.*730T>G) c.4077T>G (p.Ser1359=) c.*738T>G (n.*738T>G) c.*2452T>G (n.*2452T>G) c.4071T>G (p.Ser1357=) c.*3901T>G (n.*3901T>G) c.3651T>G (p.Ser1217=) n.2245T>G c.941T>G (n.941T>G) c.1864T>G (n.1864T>G) c.659T>G c.1527T>G c.3987T>G (p.Ser1329=) c.203T>G c.4167T>G (p.Ser1389=) c.3834T>G (p.Ser1278=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117664801T= | CA1737422081 | CFTR | c.*286T= (n.*286T=) c.*3791T= (n.*3791T=) c.3894T= (p.Ser1298=) c.*290T= (n.*290T=) c.*730T= (n.*730T=) c.4077T= (p.Ser1359=) c.*738T= (n.*738T=) c.*2452T= (n.*2452T=) c.4071T= (p.Ser1357=) c.*3901T= (n.*3901T=) c.3651T= (p.Ser1217=) n.2245T= c.941T= (n.941T=) c.1864T= (n.1864T=) c.659T= c.1527T= c.3987T= (p.Ser1329=) c.203T= c.4167T= (p.Ser1389=) c.3834T= (p.Ser1278=) | |
| 7 | g.117664801_117664802delinsTG | CA1737422077 | CFTR | c.*286_*287delinsTG (n.*286_*287delinsTG) c.*3791_*3792delinsTG (n.*3791_*3792delinsTG) c.3894_3895delinsTG (p.Ser1298=) c.*290_*291delinsTG (n.*290_*291delinsTG) c.*730_*731delinsTG (n.*730_*731delinsTG) c.4077_4078delinsTG (p.Ser1359=) c.*738_*739delinsTG (n.*738_*739delinsTG) c.*2452_*2453delinsTG (n.*2452_*2453delinsTG) c.4071_4072delinsTG (p.Ser1357=) c.*3901_*3902delinsTG (n.*3901_*3902delinsTG) c.3651_3652delinsTG (p.Ser1217=) n.2245_2246delinsTG c.941_942delinsTG (n.941_942delinsTG) c.1864_1865delinsTG (n.1864_1865delinsTG) c.659_660delinsTG c.1527_1528delinsTG c.3987_3988delinsTG (p.Ser1329=) c.203_204delinsTG c.4167_4168delinsTG (p.Ser1389=) c.3834_3835delinsTG (p.Ser1278=) | |
| 7 | g.117664802_117664803del | CA832122124 | CFTR | c.*287_*288del (n.*287_*288del) c.*3792_*3793del (n.*3792_*3793del) c.3895_3896del (p.Val1299SerfsTer3) c.*291_*292del (n.*291_*292del) c.*731_*732del (n.*731_*732del) c.4078_4079del (p.Val1360SerfsTer3) c.*739_*740del (n.*739_*740del) c.*2453_*2454del (n.*2453_*2454del) c.4072_4073del (p.Val1358SerfsTer3) c.*3902_*3903del (n.*3902_*3903del) c.3652_3653del (p.Val1218SerfsTer3) n.2246_2247del c.942_943del (n.942_943del) c.1865_1866del (n.1865_1866del) c.660_661del c.1528_1529del c.3988_3989del (p.Val1330SerfsTer3) c.204_205del c.4168_4169del (p.Val1390SerfsTer3) c.3835_3836del (p.Val1279SerfsTer3) | dbSNP |
| 7 | g.117664801_117664804del | CA1106320306 | CFTR | c.*286_*289del (n.*286_*289del) c.*3791_*3794del (n.*3791_*3794del) c.3894_3897del (p.Val1299SerfsTer19) c.*290_*293del (n.*290_*293del) c.*730_*733del (n.*730_*733del) c.4077_4080del (p.Val1360SerfsTer19) c.*738_*741del (n.*738_*741del) c.*2452_*2455del (n.*2452_*2455del) c.4071_4074del (p.Val1358SerfsTer19) c.*3901_*3904del (n.*3901_*3904del) c.3651_3654del (p.Val1218SerfsTer19) n.2245_2248del c.941_944del (n.941_944del) c.1864_1867del (n.1864_1867del) c.659_662del c.1527_1530del c.3987_3990del (p.Val1330SerfsTer19) c.203_206del c.4167_4170del (p.Val1390SerfsTer19) c.3834_3837del (p.Val1279SerfsTer19) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117664801_117664804delinsAA | CA328121 | CFTR | c.*286_*289delinsAA (n.*286_*289delinsAA) c.*3791_*3794delinsAA (n.*3791_*3794delinsAA) c.3894_3897delinsAA (p.Val1299ThrfsTer3) c.*290_*293delinsAA (n.*290_*293delinsAA) c.*730_*733delinsAA (n.*730_*733delinsAA) c.4077_4080delinsAA (p.Val1360ThrfsTer3) c.*738_*741delinsAA (n.*738_*741delinsAA) c.*2452_*2455delinsAA (n.*2452_*2455delinsAA) c.4071_4074delinsAA (p.Val1358ThrfsTer3) c.*3901_*3904delinsAA (n.*3901_*3904delinsAA) c.3651_3654delinsAA (p.Val1218ThrfsTer3) n.2245_2248delinsAA c.941_944delinsAA (n.941_944delinsAA) c.1864_1867delinsAA (n.1864_1867delinsAA) c.659_662delinsAA c.1527_1530delinsAA c.3987_3990delinsAA (p.Val1330ThrfsTer3) c.203_206delinsAA c.4167_4170delinsAA (p.Val1390ThrfsTer3) c.3834_3837delinsAA (p.Val1279ThrfsTer3) | ClinVar dbSNP |
| 7 | g.117664802del | CA645509183 | CFTR | c.*287del (n.*287del) c.*3792del (n.*3792del) c.3895del (p.Val1299PhefsTer20) c.*291del (n.*291del) c.*731del (n.*731del) c.4078del (p.Val1360PhefsTer20) c.*739del (n.*739del) c.*2453del (n.*2453del) c.4072del (p.Val1358PhefsTer20) c.*3902del (n.*3902del) c.3652del (p.Val1218PhefsTer20) n.2246del c.942del (n.942del) c.1865del (n.1865del) c.660del c.1528del c.3988del (p.Val1330PhefsTer20) c.204del c.4168del (p.Val1390PhefsTer20) c.3835del (p.Val1279PhefsTer20) | ClinVar dbSNP |
| 7 | g.117664802G>A | CA368982707 | CFTR | c.*287G>A (n.*287G>A) c.*3792G>A (n.*3792G>A) c.3895G>A (p.Val1299Ile) c.*291G>A (n.*291G>A) c.*731G>A (n.*731G>A) c.4078G>A (p.Val1360Ile) c.*739G>A (n.*739G>A) c.*2453G>A (n.*2453G>A) c.4072G>A (p.Val1358Ile) c.*3902G>A (n.*3902G>A) c.3652G>A (p.Val1218Ile) n.2246G>A c.942G>A (n.942G>A) c.1865G>A (n.1865G>A) c.660G>A c.1528G>A c.3988G>A (p.Val1330Ile) c.204G>A c.4168G>A (p.Val1390Ile) c.3835G>A (p.Val1279Ile) | dbSNP gnomAD v4 |
| 7 | g.117664802G>C | CA368982706 | CFTR | c.*287G>C (n.*287G>C) c.*3792G>C (n.*3792G>C) c.3895G>C (p.Val1299Leu) c.*291G>C (n.*291G>C) c.*731G>C (n.*731G>C) c.4078G>C (p.Val1360Leu) c.*739G>C (n.*739G>C) c.*2453G>C (n.*2453G>C) c.4072G>C (p.Val1358Leu) c.*3902G>C (n.*3902G>C) c.3652G>C (p.Val1218Leu) n.2246G>C c.942G>C (n.942G>C) c.1865G>C (n.1865G>C) c.660G>C c.1528G>C c.3988G>C (p.Val1330Leu) c.204G>C c.4168G>C (p.Val1390Leu) c.3835G>C (p.Val1279Leu) | |
| 7 | g.117664802G= | CA1737422087 | CFTR | c.*287G= (n.*287G=) c.*3792G= (n.*3792G=) c.3895G= (p.Val1299=) c.*291G= (n.*291G=) c.*731G= (n.*731G=) c.4078G= (p.Val1360=) c.*739G= (n.*739G=) c.*2453G= (n.*2453G=) c.4072G= (p.Val1358=) c.*3902G= (n.*3902G=) c.3652G= (p.Val1218=) n.2246G= c.942G= (n.942G=) c.1865G= (n.1865G=) c.660G= c.1528G= c.3988G= (p.Val1330=) c.204G= c.4168G= (p.Val1390=) c.3835G= (p.Val1279=) | |
| 7 | g.117664802G>T | CA368982704 | CFTR | c.*287G>T (n.*287G>T) c.*3792G>T (n.*3792G>T) c.3895G>T (p.Val1299Phe) c.*291G>T (n.*291G>T) c.*731G>T (n.*731G>T) c.4078G>T (p.Val1360Phe) c.*739G>T (n.*739G>T) c.*2453G>T (n.*2453G>T) c.4072G>T (p.Val1358Phe) c.*3902G>T (n.*3902G>T) c.3652G>T (p.Val1218Phe) n.2246G>T c.942G>T (n.942G>T) c.1865G>T (n.1865G>T) c.660G>T c.1528G>T c.3988G>T (p.Val1330Phe) c.204G>T c.4168G>T (p.Val1390Phe) c.3835G>T (p.Val1279Phe) | |
| 7 | g.117664803T>A | CA164960245 | CFTR | c.*288T>A (n.*288T>A) c.*3793T>A (n.*3793T>A) c.3896T>A (p.Val1299Asp) c.*292T>A (n.*292T>A) c.*732T>A (n.*732T>A) c.4079T>A (p.Val1360Asp) c.*740T>A (n.*740T>A) c.*2454T>A (n.*2454T>A) c.4073T>A (p.Val1358Asp) c.*3903T>A (n.*3903T>A) c.3653T>A (p.Val1218Asp) n.2247T>A c.943T>A (n.943T>A) c.1866T>A (n.1866T>A) c.661T>A c.1529T>A c.3989T>A (p.Val1330Asp) c.205T>A c.4169T>A (p.Val1390Asp) c.3836T>A (p.Val1279Asp) | dbSNP |
| 7 | g.117664803T>C | CA368982711 | CFTR | c.*288T>C (n.*288T>C) c.*3793T>C (n.*3793T>C) c.3896T>C (p.Val1299Ala) c.*292T>C (n.*292T>C) c.*732T>C (n.*732T>C) c.4079T>C (p.Val1360Ala) c.*740T>C (n.*740T>C) c.*2454T>C (n.*2454T>C) c.4073T>C (p.Val1358Ala) c.*3903T>C (n.*3903T>C) c.3653T>C (p.Val1218Ala) n.2247T>C c.943T>C (n.943T>C) c.1866T>C (n.1866T>C) c.661T>C c.1529T>C c.3989T>C (p.Val1330Ala) c.205T>C c.4169T>C (p.Val1390Ala) c.3836T>C (p.Val1279Ala) | |
| 7 | g.117664803T>G | CA368982713 | CFTR | c.*288T>G (n.*288T>G) c.*3793T>G (n.*3793T>G) c.3896T>G (p.Val1299Gly) c.*292T>G (n.*292T>G) c.*732T>G (n.*732T>G) c.4079T>G (p.Val1360Gly) c.*740T>G (n.*740T>G) c.*2454T>G (n.*2454T>G) c.4073T>G (p.Val1358Gly) c.*3903T>G (n.*3903T>G) c.3653T>G (p.Val1218Gly) n.2247T>G c.943T>G (n.943T>G) c.1866T>G (n.1866T>G) c.661T>G c.1529T>G c.3989T>G (p.Val1330Gly) c.205T>G c.4169T>G (p.Val1390Gly) c.3836T>G (p.Val1279Gly) | |
| 7 | g.117664803T= | CA1737422089 | CFTR | c.*288T= (n.*288T=) c.*3793T= (n.*3793T=) c.3896T= (p.Val1299=) c.*292T= (n.*292T=) c.*732T= (n.*732T=) c.4079T= (p.Val1360=) c.*740T= (n.*740T=) c.*2454T= (n.*2454T=) c.4073T= (p.Val1358=) c.*3903T= (n.*3903T=) c.3653T= (p.Val1218=) n.2247T= c.943T= (n.943T=) c.1866T= (n.1866T=) c.661T= c.1529T= c.3989T= (p.Val1330=) c.205T= c.4169T= (p.Val1390=) c.3836T= (p.Val1279=) | |
| 7 | g.117664804T>A | CA164960249 | CFTR | c.*289T>A (n.*289T>A) c.*3794T>A (n.*3794T>A) c.3897T>A (p.Val1299=) c.*293T>A (n.*293T>A) c.*733T>A (n.*733T>A) c.4080T>A (p.Val1360=) c.*741T>A (n.*741T>A) c.*2455T>A (n.*2455T>A) c.4074T>A (p.Val1358=) c.*3904T>A (n.*3904T>A) c.3654T>A (p.Val1218=) n.2248T>A c.944T>A (n.944T>A) c.1867T>A (n.1867T>A) c.662T>A c.1530T>A c.3990T>A (p.Val1330=) c.206T>A c.4170T>A (p.Val1390=) c.3837T>A (p.Val1279=) | dbSNP |
| 7 | g.117664804T>C | CA457230425 | CFTR | c.*289T>C (n.*289T>C) c.*3794T>C (n.*3794T>C) c.3897T>C (p.Val1299=) c.*293T>C (n.*293T>C) c.*733T>C (n.*733T>C) c.4080T>C (p.Val1360=) c.*741T>C (n.*741T>C) c.*2455T>C (n.*2455T>C) c.4074T>C (p.Val1358=) c.*3904T>C (n.*3904T>C) c.3654T>C (p.Val1218=) n.2248T>C c.944T>C (n.944T>C) c.1867T>C (n.1867T>C) c.662T>C c.1530T>C c.3990T>C (p.Val1330=) c.206T>C c.4170T>C (p.Val1390=) c.3837T>C (p.Val1279=) | dbSNP |
| 7 | g.117664804T>G | CA457230428 | CFTR | c.*289T>G (n.*289T>G) c.*3794T>G (n.*3794T>G) c.3897T>G (p.Val1299=) c.*293T>G (n.*293T>G) c.*733T>G (n.*733T>G) c.4080T>G (p.Val1360=) c.*741T>G (n.*741T>G) c.*2455T>G (n.*2455T>G) c.4074T>G (p.Val1358=) c.*3904T>G (n.*3904T>G) c.3654T>G (p.Val1218=) n.2248T>G c.944T>G (n.944T>G) c.1867T>G (n.1867T>G) c.662T>G c.1530T>G c.3990T>G (p.Val1330=) c.206T>G c.4170T>G (p.Val1390=) c.3837T>G (p.Val1279=) | |
| 7 | g.117664804T= | CA1737422092 | CFTR | c.*289T= (n.*289T=) c.*3794T= (n.*3794T=) c.3897T= (p.Val1299=) c.*293T= (n.*293T=) c.*733T= (n.*733T=) c.4080T= (p.Val1360=) c.*741T= (n.*741T=) c.*2455T= (n.*2455T=) c.4074T= (p.Val1358=) c.*3904T= (n.*3904T=) c.3654T= (p.Val1218=) n.2248T= c.944T= (n.944T=) c.1867T= (n.1867T=) c.662T= c.1530T= c.3990T= (p.Val1330=) c.206T= c.4170T= (p.Val1390=) c.3837T= (p.Val1279=) | |
| 7 | g.117664804_117664805insAA | CA1106320310 | CFTR | c.*289_*290insAA (n.*289_*290insAA) c.*3794_*3795insAA (n.*3794_*3795insAA) c.3897_3898insAA (p.Leu1300AsnfsTer20) c.*293_*294insAA (n.*293_*294insAA) c.*733_*734insAA (n.*733_*734insAA) c.4080_4081insAA (p.Leu1361AsnfsTer20) c.*741_*742insAA (n.*741_*742insAA) c.*2455_*2456insAA (n.*2455_*2456insAA) c.4074_4075insAA (p.Leu1359AsnfsTer20) c.*3904_*3905insAA (n.*3904_*3905insAA) c.3654_3655insAA (p.Leu1219AsnfsTer20) n.2248_2249insAA c.944_945insAA (n.944_945insAA) c.1867_1868insAA (n.1867_1868insAA) c.662_663insAA c.1530_1531insAA c.3990_3991insAA (p.Leu1331AsnfsTer20) c.206_207insAA c.4170_4171insAA (p.Leu1391AsnfsTer20) c.3837_3838insAA (p.Leu1280AsnfsTer20) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117664805C>A | CA368982716 | CFTR | c.*290C>A (n.*290C>A) c.*3795C>A (n.*3795C>A) c.3898C>A (p.Leu1300Ile) c.*294C>A (n.*294C>A) c.*734C>A (n.*734C>A) c.4081C>A (p.Leu1361Ile) c.*742C>A (n.*742C>A) c.*2456C>A (n.*2456C>A) c.4075C>A (p.Leu1359Ile) c.*3905C>A (n.*3905C>A) c.3655C>A (p.Leu1219Ile) n.2249C>A c.945C>A (n.945C>A) c.1868C>A (n.1868C>A) c.663C>A c.1531C>A c.3991C>A (p.Leu1331Ile) c.207C>A c.4171C>A (p.Leu1391Ile) c.3838C>A (p.Leu1280Ile) | |
| 7 | g.117664805C= | CA1737422099 | CFTR | c.*290C= (n.*290C=) c.*3795C= (n.*3795C=) c.3898C= (p.Leu1300=) c.*294C= (n.*294C=) c.*734C= (n.*734C=) c.4081C= (p.Leu1361=) c.*742C= (n.*742C=) c.*2456C= (n.*2456C=) c.4075C= (p.Leu1359=) c.*3905C= (n.*3905C=) c.3655C= (p.Leu1219=) n.2249C= c.945C= (n.945C=) c.1868C= (n.1868C=) c.663C= c.1531C= c.3991C= (p.Leu1331=) c.207C= c.4171C= (p.Leu1391=) c.3838C= (p.Leu1280=) | |
| 7 | g.117664805C>G | CA4451624 | CFTR | c.*290C>G (n.*290C>G) c.*3795C>G (n.*3795C>G) c.3898C>G (p.Leu1300Val) c.*294C>G (n.*294C>G) c.*734C>G (n.*734C>G) c.4081C>G (p.Leu1361Val) c.*742C>G (n.*742C>G) c.*2456C>G (n.*2456C>G) c.4075C>G (p.Leu1359Val) c.*3905C>G (n.*3905C>G) c.3655C>G (p.Leu1219Val) n.2249C>G c.945C>G (n.945C>G) c.1868C>G (n.1868C>G) c.663C>G c.1531C>G c.3991C>G (p.Leu1331Val) c.207C>G c.4171C>G (p.Leu1391Val) c.3838C>G (p.Leu1280Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117664805C>T | CA368982719 | CFTR | c.*290C>T (n.*290C>T) c.*3795C>T (n.*3795C>T) c.3898C>T (p.Leu1300Phe) c.*294C>T (n.*294C>T) c.*734C>T (n.*734C>T) c.4081C>T (p.Leu1361Phe) c.*742C>T (n.*742C>T) c.*2456C>T (n.*2456C>T) c.4075C>T (p.Leu1359Phe) c.*3905C>T (n.*3905C>T) c.3655C>T (p.Leu1219Phe) n.2249C>T c.945C>T (n.945C>T) c.1868C>T (n.1868C>T) c.663C>T c.1531C>T c.3991C>T (p.Leu1331Phe) c.207C>T c.4171C>T (p.Leu1391Phe) c.3838C>T (p.Leu1280Phe) | dbSNP |
| 7 | g.117664806T>A | CA368982722 | CFTR | c.*291T>A (n.*291T>A) c.*3796T>A (n.*3796T>A) c.3899T>A (p.Leu1300His) c.*295T>A (n.*295T>A) c.*735T>A (n.*735T>A) c.4082T>A (p.Leu1361His) c.*743T>A (n.*743T>A) c.*2457T>A (n.*2457T>A) c.4076T>A (p.Leu1359His) c.*3906T>A (n.*3906T>A) c.3656T>A (p.Leu1219His) n.2250T>A c.946T>A (n.946T>A) c.1869T>A (n.1869T>A) c.664T>A c.1532T>A c.3992T>A (p.Leu1331His) c.208T>A c.4172T>A (p.Leu1391His) c.3839T>A (p.Leu1280His) | |
| 7 | g.117664806T>C | CA368982724 | CFTR | c.*291T>C (n.*291T>C) c.*3796T>C (n.*3796T>C) c.3899T>C (p.Leu1300Pro) c.*295T>C (n.*295T>C) c.*735T>C (n.*735T>C) c.4082T>C (p.Leu1361Pro) c.*743T>C (n.*743T>C) c.*2457T>C (n.*2457T>C) c.4076T>C (p.Leu1359Pro) c.*3906T>C (n.*3906T>C) c.3656T>C (p.Leu1219Pro) n.2250T>C c.946T>C (n.946T>C) c.1869T>C (n.1869T>C) c.664T>C c.1532T>C c.3992T>C (p.Leu1331Pro) c.208T>C c.4172T>C (p.Leu1391Pro) c.3839T>C (p.Leu1280Pro) | |
| 7 | g.117664806T>G | CA368982726 | CFTR | c.*291T>G (n.*291T>G) c.*3796T>G (n.*3796T>G) c.3899T>G (p.Leu1300Arg) c.*295T>G (n.*295T>G) c.*735T>G (n.*735T>G) c.4082T>G (p.Leu1361Arg) c.*743T>G (n.*743T>G) c.*2457T>G (n.*2457T>G) c.4076T>G (p.Leu1359Arg) c.*3906T>G (n.*3906T>G) c.3656T>G (p.Leu1219Arg) n.2250T>G c.946T>G (n.946T>G) c.1869T>G (n.1869T>G) c.664T>G c.1532T>G c.3992T>G (p.Leu1331Arg) c.208T>G c.4172T>G (p.Leu1391Arg) c.3839T>G (p.Leu1280Arg) | gnomAD v4 |
| 7 | g.117664807C>A | CA457230443 | CFTR | c.*292C>A (n.*292C>A) c.*3797C>A (n.*3797C>A) c.3900C>A (p.Leu1300=) c.*296C>A (n.*296C>A) c.*736C>A (n.*736C>A) c.4083C>A (p.Leu1361=) c.*744C>A (n.*744C>A) c.*2458C>A (n.*2458C>A) c.4077C>A (p.Leu1359=) c.*3907C>A (n.*3907C>A) c.3657C>A (p.Leu1219=) n.2251C>A c.947C>A (n.947C>A) c.1870C>A (n.1870C>A) c.665C>A c.1533C>A c.3993C>A (p.Leu1331=) c.209C>A c.4173C>A (p.Leu1391=) c.3840C>A (p.Leu1280=) | |
| 7 | g.117664807C>G | CA457230440 | CFTR | c.*292C>G (n.*292C>G) c.*3797C>G (n.*3797C>G) c.3900C>G (p.Leu1300=) c.*296C>G (n.*296C>G) c.*736C>G (n.*736C>G) c.4083C>G (p.Leu1361=) c.*744C>G (n.*744C>G) c.*2458C>G (n.*2458C>G) c.4077C>G (p.Leu1359=) c.*3907C>G (n.*3907C>G) c.3657C>G (p.Leu1219=) n.2251C>G c.947C>G (n.947C>G) c.1870C>G (n.1870C>G) c.665C>G c.1533C>G c.3993C>G (p.Leu1331=) c.209C>G c.4173C>G (p.Leu1391=) c.3840C>G (p.Leu1280=) | |
| 7 | g.117664807C>T | CA457230444 | CFTR | c.*292C>T (n.*292C>T) c.*3797C>T (n.*3797C>T) c.3900C>T (p.Leu1300=) c.*296C>T (n.*296C>T) c.*736C>T (n.*736C>T) c.4083C>T (p.Leu1361=) c.*744C>T (n.*744C>T) c.*2458C>T (n.*2458C>T) c.4077C>T (p.Leu1359=) c.*3907C>T (n.*3907C>T) c.3657C>T (p.Leu1219=) n.2251C>T c.947C>T (n.947C>T) c.1870C>T (n.1870C>T) c.665C>T c.1533C>T c.3993C>T (p.Leu1331=) c.209C>T c.4173C>T (p.Leu1391=) c.3840C>T (p.Leu1280=) | |
| 7 | g.117664808A>C | CA368982729 | CFTR | c.*293A>C (n.*293A>C) c.*3798A>C (n.*3798A>C) c.3901A>C (p.Ser1301Arg) c.*297A>C (n.*297A>C) c.*737A>C (n.*737A>C) c.4084A>C (p.Ser1362Arg) c.*745A>C (n.*745A>C) c.*2459A>C (n.*2459A>C) c.4078A>C (p.Ser1360Arg) c.*3908A>C (n.*3908A>C) c.3658A>C (p.Ser1220Arg) n.2252A>C c.948A>C (n.948A>C) c.1871A>C (n.1871A>C) c.666A>C c.1534A>C c.3994A>C (p.Ser1332Arg) c.210A>C c.4174A>C (p.Ser1392Arg) c.3841A>C (p.Ser1281Arg) | |
| 7 | g.117664808A>G | CA368982731 | CFTR | c.*293A>G (n.*293A>G) c.*3798A>G (n.*3798A>G) c.3901A>G (p.Ser1301Gly) c.*297A>G (n.*297A>G) c.*737A>G (n.*737A>G) c.4084A>G (p.Ser1362Gly) c.*745A>G (n.*745A>G) c.*2459A>G (n.*2459A>G) c.4078A>G (p.Ser1360Gly) c.*3908A>G (n.*3908A>G) c.3658A>G (p.Ser1220Gly) n.2252A>G c.948A>G (n.948A>G) c.1871A>G (n.1871A>G) c.666A>G c.1534A>G c.3994A>G (p.Ser1332Gly) c.210A>G c.4174A>G (p.Ser1392Gly) c.3841A>G (p.Ser1281Gly) | |
| 7 | g.117664808A>T | CA368982733 | CFTR | c.*293A>T (n.*293A>T) c.*3798A>T (n.*3798A>T) c.3901A>T (p.Ser1301Cys) c.*297A>T (n.*297A>T) c.*737A>T (n.*737A>T) c.4084A>T (p.Ser1362Cys) c.*745A>T (n.*745A>T) c.*2459A>T (n.*2459A>T) c.4078A>T (p.Ser1360Cys) c.*3908A>T (n.*3908A>T) c.3658A>T (p.Ser1220Cys) n.2252A>T c.948A>T (n.948A>T) c.1871A>T (n.1871A>T) c.666A>T c.1534A>T c.3994A>T (p.Ser1332Cys) c.210A>T c.4174A>T (p.Ser1392Cys) c.3841A>T (p.Ser1281Cys) | |
| 7 | g.117664809G>A | CA4451625 | CFTR | c.*294G>A (n.*294G>A) c.*3799G>A (n.*3799G>A) c.3902G>A (p.Ser1301Asn) c.*298G>A (n.*298G>A) c.*738G>A (n.*738G>A) c.4085G>A (p.Ser1362Asn) c.*746G>A (n.*746G>A) c.*2460G>A (n.*2460G>A) c.4079G>A (p.Ser1360Asn) c.*3909G>A (n.*3909G>A) c.3659G>A (p.Ser1220Asn) n.2253G>A c.949G>A (n.949G>A) c.1872G>A (n.1872G>A) c.667G>A c.1535G>A c.3995G>A (p.Ser1332Asn) c.211G>A c.4175G>A (p.Ser1392Asn) c.3842G>A (p.Ser1281Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117664809G>C | CA4451626 | CFTR | c.*294G>C (n.*294G>C) c.*3799G>C (n.*3799G>C) c.3902G>C (p.Ser1301Thr) c.*298G>C (n.*298G>C) c.*738G>C (n.*738G>C) c.4085G>C (p.Ser1362Thr) c.*746G>C (n.*746G>C) c.*2460G>C (n.*2460G>C) c.4079G>C (p.Ser1360Thr) c.*3909G>C (n.*3909G>C) c.3659G>C (p.Ser1220Thr) n.2253G>C c.949G>C (n.949G>C) c.1872G>C (n.1872G>C) c.667G>C c.1535G>C c.3995G>C (p.Ser1332Thr) c.211G>C c.4175G>C (p.Ser1392Thr) c.3842G>C (p.Ser1281Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117664809G= | CA1737422103 | CFTR | c.*294G= (n.*294G=) c.*3799G= (n.*3799G=) c.3902G= (p.Ser1301=) c.*298G= (n.*298G=) c.*738G= (n.*738G=) c.4085G= (p.Ser1362=) c.*746G= (n.*746G=) c.*2460G= (n.*2460G=) c.4079G= (p.Ser1360=) c.*3909G= (n.*3909G=) c.3659G= (p.Ser1220=) n.2253G= c.949G= (n.949G=) c.1872G= (n.1872G=) c.667G= c.1535G= c.3995G= (p.Ser1332=) c.211G= c.4175G= (p.Ser1392=) c.3842G= (p.Ser1281=) | |
| 7 | g.117664809G>T | CA368982736 | CFTR | c.*294G>T (n.*294G>T) c.*3799G>T (n.*3799G>T) c.3902G>T (p.Ser1301Ile) c.*298G>T (n.*298G>T) c.*738G>T (n.*738G>T) c.4085G>T (p.Ser1362Ile) c.*746G>T (n.*746G>T) c.*2460G>T (n.*2460G>T) c.4079G>T (p.Ser1360Ile) c.*3909G>T (n.*3909G>T) c.3659G>T (p.Ser1220Ile) n.2253G>T c.949G>T (n.949G>T) c.1872G>T (n.1872G>T) c.667G>T c.1535G>T c.3995G>T (p.Ser1332Ile) c.211G>T c.4175G>T (p.Ser1392Ile) c.3842G>T (p.Ser1281Ile) | |
| 7 | g.117664810T>A | CA368982739 | CFTR | c.*295T>A (n.*295T>A) c.*3800T>A (n.*3800T>A) c.3903T>A (p.Ser1301Arg) c.*299T>A (n.*299T>A) c.*739T>A (n.*739T>A) c.4086T>A (p.Ser1362Arg) c.*747T>A (n.*747T>A) c.*2461T>A (n.*2461T>A) c.4080T>A (p.Ser1360Arg) c.*3910T>A (n.*3910T>A) c.3660T>A (p.Ser1220Arg) n.2254T>A c.950T>A (n.950T>A) c.1873T>A (n.1873T>A) c.668T>A c.1536T>A c.3996T>A (p.Ser1332Arg) c.212T>A c.4176T>A (p.Ser1392Arg) c.3843T>A (p.Ser1281Arg) | |
| 7 | g.117664810T>C | CA457230450 | CFTR | c.*295T>C (n.*295T>C) c.*3800T>C (n.*3800T>C) c.3903T>C (p.Ser1301=) c.*299T>C (n.*299T>C) c.*739T>C (n.*739T>C) c.4086T>C (p.Ser1362=) c.*747T>C (n.*747T>C) c.*2461T>C (n.*2461T>C) c.4080T>C (p.Ser1360=) c.*3910T>C (n.*3910T>C) c.3660T>C (p.Ser1220=) n.2254T>C c.950T>C (n.950T>C) c.1873T>C (n.1873T>C) c.668T>C c.1536T>C c.3996T>C (p.Ser1332=) c.212T>C c.4176T>C (p.Ser1392=) c.3843T>C (p.Ser1281=) | |
| 7 | g.117664810T>G | CA368982742 | CFTR | c.*295T>G (n.*295T>G) c.*3800T>G (n.*3800T>G) c.3903T>G (p.Ser1301Arg) c.*299T>G (n.*299T>G) c.*739T>G (n.*739T>G) c.4086T>G (p.Ser1362Arg) c.*747T>G (n.*747T>G) c.*2461T>G (n.*2461T>G) c.4080T>G (p.Ser1360Arg) c.*3910T>G (n.*3910T>G) c.3660T>G (p.Ser1220Arg) n.2254T>G c.950T>G (n.950T>G) c.1873T>G (n.1873T>G) c.668T>G c.1536T>G c.3996T>G (p.Ser1332Arg) c.212T>G c.4176T>G (p.Ser1392Arg) c.3843T>G (p.Ser1281Arg) | |
| 7 | g.117664810dup | CA327394 | CFTR | c.*295dup (n.*295dup) c.*3800dup (n.*3800dup) c.3903dup (p.Lys1302Ter) c.*299dup (n.*299dup) c.*739dup (n.*739dup) c.4086dup (p.Lys1363Ter) c.*747dup (n.*747dup) c.*2461dup (n.*2461dup) c.4080dup (p.Lys1361Ter) c.*3910dup (n.*3910dup) c.3660dup (p.Lys1221Ter) n.2254dup c.950dup (n.950dup) c.1873dup (n.1873dup) c.668dup c.1536dup c.3996dup (p.Lys1333Ter) c.212dup c.4176dup (p.Lys1393Ter) c.3843dup (p.Lys1282Ter) | ClinVar dbSNP gnomAD v4 |